KIT N505I
Gene Variant Detail

Request Content

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene KIT
Variant N505I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT N505I lies within the Ig-like C2-type domain 5 (exon 9) of the Kit protein (UniProt.org). N505I results in constitutive phosphorylation of Kit, activation of downstream Akt and Erk, and is transforming in cell culture (PMID: 24317392).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT N505I

KIT mutant KIT exon9 KIT N505I

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Transcript NM_000222.3
gDNA chr4:g.54726024A>T
cDNA c.1514A>T
Protein p.N505I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54726024A>T c.1514A>T p.N505I RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54726024A>T c.1514A>T p.N505I RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54726024A>T c.1514A>T p.N505I RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54726024A>T c.1514A>T p.N505I RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54726024A>T c.1514A>T p.N505I RefSeq GRCh38/hg38
XM_017008180 chr4:g.54726024A>T c.1514A>T p.N505I RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54726024A>T c.1514A>T p.N505I RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54726024A>T c.1514A>T p.N505I RefSeq GRCh38/hg38
NM_001093772 chr4:g.54726024A>T c.1514A>T p.N505I RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54726024A>T c.1514A>T p.N505I RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54726024A>T c.1514A>T p.N505I RefSeq GRCh38/hg38
XM_017008178 chr4:g.54726024A>T c.1514A>T p.N505I RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT N505I melanoma sensitive Sorafenib Preclinical Actionable In a preclinical study, KIT N505I induced phosphorylation of KIT, ERK, and AKT, and was inhibited by Nexavar (sorafenib) in cell culture of melanocytes, demonstrating sensitivity of N505I to sorafenib (PMID: 24317392). 24317392
KIT N505I melanoma predicted - sensitive Imatinib Preclinical Actionable In a preclinical study, Gleevec (imatinib) decreased phosphorylation of KIT, AKT, and ERK in melanocytes expressing KIT N505I in culture (PMID: 24317392). 24317392